Summary of DiGeorge syndrome
Flashcards on DiGeorge syndrome
DiGeorge syndrome is a primary immunodeficiency that involves developmental failure of the .
Questions on DiGeorge syndrome
A 6-month-old male infant comes to the physician because of recurrent ear and respiratory infections. His mother says that he has been having difficulty breastfeeding since birth and is underweight. She is worried that his illness is because she did not receive prenatal care until she was six months pregnant. She denies cigarette, drug, and alcohol use during pregnancy. Physical examination of the patient shows an underweight infant with mild central cyanosis. Examination of the head shows low-set ears, wide-set eyes, and throat examination shows a bifid uvula (see image below). Auscultation shows a normal S1 and a fixed split S2. Musculoskeletal examination shows generalized poor muscle tone. Which of the following tests is most appropriate to confirm the diagnosis based on the patient's symptoms?